Clinical Challenges

July 2018 - What's your diagnosis?

A 25-year-old male patient was admitted for weight loss and increasing abdominal discomfort. On physical examination, a large mass was palpated in the upper abdomen. Laboratory tests were all within normal range.
Abdominal ultrasound and cross-sectional imaging (computed tomography, magnetic resonance imaging) revealed an enormous cystic tumor in right abdomen, 25 × 20 cm in size, occupying almost the half of the abdominal cavity (Figure A, B).
Concomitant kidney or liver cysts were absent. At operation, a giant polycystic tumor producing considerable compression of neighbor organs was evident (Figure C). The tumor was completely removed. What is your diagnosis?


Polycystic pancreas
Cross-sectional imaging revealed the diagnosis of polycystic pancreas (diffuse cystic degeneration of the whole organ) with giant cysts in the head and multiple cysts across the whole organ in the absence of concomitant kidney or liver cysts (Figure A, B).

The patient underwent an endoscopic ultrasound-guided fine-needle aspiration before the operation, and a mucinous cystic neoplasm was documented. A total duodenopancreatosplenectomy followed. The postoperative course was uneventful. Histology showed multiple cysts of variable diameter lined by monolayer flattened or cuboidal epithelium without atypia and confirmed the diagnosis of polycystic pancreas (Figures D, E; stain: hematoxylin and eosin; original magnifications: ×100 and ×200, respectively).

Genetic testing was negative for von Hippel-Lindau (VHL) disease. The patient remains in good general condition under diabetes management and oral administration of pancreatic enzymes 45 months 4 years after pancreatectomy. Magnetic resonance imaging of the central nervous system and abdomen were without pathologic findings.

Although pancreatic cysts are very common, a diffuse cystic degeneration of the pancreas in the form of polycystic pancreas is very infrequent and has been described in patients with VHL disease. 1 It is almost always associated with multiple renal cysts. 1 Genetic testing for VHL disease is suggested in all cases presenting with multiple pancreatic cysts by some investigators. 2 It has an accuracy greater than 80%, which reaches 95%-100% in patients who fulfill the clinical criteria for VHL disease. 3

The novelty of this case is double; to the best of our knowledge, polycystic pancreas with such a volume (cysts up to 25 cm) has not yet been documented in the literature and has not been at all described in the absence of VHL disease up to now.

1. Leung R., Biswas S., Duncan M. et al. Imaging features of Von Hippel-Lindau disease. Radiographics. 2008;28:65-79.
2. Kapur V. Brower S.T. Cystic replacement of pancreas in patient with von Hippel-Lindau syndrome. Gastrointest Cancer Res. 2013;6:25-6.
3. Nielsen S.M., Rhodes L., Blanco I. et al. Von Hippel-Lindau disease: genetics and role of genetic counseling in a multiple neoplasia syndrome. J Clin Oncol. 2016;34:2172-81.

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